Fabry Disease is a rare glycosphingolipid accumulation disorder with an X chromosome-mediated inheritance. Alpha galactosidase enzyme deficiency causes the accumulation of globotriaosylceramide in many different tissues such as nerve, kidney, heart and skin and results in multiple systems disease. Males may be affected more frequently and more severely, but heterozygous females may also be affected, but the symptoms occur at later ages. Cardiac involvement, left ventricular hypertrophy, conduction system disorders, arrhythmias, valve disorders and heart failure are observed. One type of disease involves the heart tissue, which usually occurs with unexplained left ventricular hypertrophy. Hemizygous or heterozygous mutations in the GLA gene are responsible for Fabry disease.

FAST-GLA® NGS Sequencing Kit is a next generation sequence analysis library preparation kit developed to investigate mutations in the GLA gene in the DNA isolated from blood or tissue. This kit, which was developed to enrich all the coding exons GLA gene for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in only one tube.

USAGE AREAS

FAST-GLA® NGS Sequencing Kit is used for detection of GLA gene mutations in Fabry patients. Determination of responsible mutations in patients allows proper follow monitoring and treatment of the patient and will also allow the consideration of options such as prenatal and/or preimplantation genetic diagnosis.

TECHNICAL SPECIFICATIONS

Von Willebrand’s disease (VWD) is an inherited bleeding disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWD is most commonly observed bleeding disorder and it occurs in both men and women equally. VWF gene is carried on chromosome 12.

The disease is characterized mainly by mucosa-associated bleeding and bleeding after surgery and trauma. People with VWD experience frequent nosebleeds, easy bruising and excessive bleeding during and after invasive procedures, such as tooth extractions and surgery. Women often experience menorrhagia, heavy menstrual periods that last longer than average, and hemorrhaging after childbirth.

There are three main types of VWD. Type 1 is the the mildest and most common type. People with type 1 VWD have a reduced level of von Willebrand factor in their blood. Bleeding is mostly only a problem if they have surgery, injure themselves, or have a tooth removed. In, Type 2 bleeding tends to be more frequent and heavier due to dysfunctional von Willebrand factor. Type 3 is the most severe and rarest type with very low level or no VWF.

FAST-VWF® NGS SEQUENCING KIT is a next generation sequence analysis library preparation kit developed to investigate mutations in the VWF gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons VWF gene for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in a total of 3 tubes.

USAGE AREAS

FAST-VWF® NGS SEQUENCING KIT is used for the fast, low-cost and reliable diagnosis of hereditary von Willebrand Disease (VWD). Accurate determination of the etiology in a patient with VWH is critical for appropriate treatment selection and proper monitoring. In addition, the identification of the mutation in the VWF gene will allow the patient and his family to receive a comprehensive and optimal genetic counselling and will also allow the consideration of options such as prenatal diagnosis and / or preimplantation genetic diagnosis.

TECHNICAL SPECIFICATIONS

Hemophilia B is a genetic disease that occurs when the coagulation protein factor IX is deficient or defective. Although disease is transmitted from the parent to the child, about one third of the diseases are caused by spontaneous mutations. Hemophilia B, as a disease phenotype, cannot be differentiated from Hemophilia A but its occurrence is 25 percent of type A. For the diagnosis of hemophilia B, the cause of factor IX deficiency should be shown by molecular methods.

Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.

HEMOPHILIA B® NGS SEGUENCING KIT is a next generation sequence analysis library preparation kit developed to investigate mutations in the F9 gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons F9 gene for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in only one tube.

USAGE AREAS

HEMOPHILIA B® NGS SEGUENCING KIT is used for the fast, low-cost and reliable diagnosis of Hemophilia B. Accurate determination of the etiology in a patient with Hemophilia B is critical for appropriate treatment selection and proper monitoring. In addition, the identification of the mutation in the F9 gene will allow the patient and his family to receive a comprehensive and optimal genetic counselling and will also allow the consideration of options such as prenatal diagnosis and / or preimplantation genetic diagnosis.

TECHNICAL SPECIFICATIONS

Mitochondrial DNA is a circular DNA species that must be investigated separately from genomic DNA. Molecular genetic analysis of mitochondrial DNA is a challenging process because of the complex structure of the diseases that it causes, as well as the heterogeneity of the inheritance pattern and the length of the mitochondrial DNA.

mtDNA PLUS® NGS SEQUENCING & LIBRARY PREPARATION KIT is a NGS-based library preparation kit that allows mutations on mitochondrial DNA to be detected. The kit allows the analysis of the complete mtDNA at once and in a rapid and straightforward manner, thanks to its simple design. mtDNA PLUS® NGS SEQUENCING & LIBRARY PREPARATION KIT contains reaction mix and indexes that allows preparation of Illumina compatible libraries for the simultaneous analysis of 24 patients. Library preparation takes approximately 2 hours.

USAGE AREAS

Mitochondrial diseases constitute a significant component of genetic diseases. The mutations in this special DNA, that is included in the mitochondria, the most important organelle in the energy metabolism of the cell, give rise to mitochondrial diseases such as Leber´s Hereditary Optic Atrophy (LHON), Kearn Sayre Syndrome (CNS), Leigh Syndrome, NARP Syndrome, MELAS and MERRF. mtDNA PLUS® NGS SEQUENCING & LIBRARY PREPARATION KIT provides fast and reliable diagnosis of these diseases.

TECHNICAL SPECIFICATIONS

Cystic fibrosis is an autosomal recessive disease that occurs in one in every 2,500 live births in many communities. The mutations in the gene that codes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which acts as a chlorine channel, are responsible for this disease. The epithelial cells in the intestines and respiratory system, pancreatic cells and sweat glands are directly affected by this disease. The increased mucus production accompanying the reduced mucociliary activity results in obstructive pulmonary disease and bacterial infections, which lead to death due to respiratory failure, are the main cause of mortality in patients with cystic fibrosis. Pancreatic failure may also be observed in patients due to the inability to release sufficient digestive enzymes. 97-98% of men with cystic fibrosis also suffer from azoospermia due to the absence of bilateral congenital vas deferens (CBAVD). In addition, fertility problems may occur in female patients due to impaired cervical mucus quality. To date, approximately 1,800 mutations have been identified in the CFTR gene. The size of the CFTR gene (27 coding exons) renders the molecular diagnosis of the disease difficult.

CFTR PLUS® NGS SEQUENCING & LIBRARY PREPARATION KIT a next generation sequence analysis library preparation kit developed to investigate mutations that occur on the CFTR gene in the DNA molecules isolated from blood or tissue. Enrichment of the CFTR gene by a single PCR condition and a reaction that is realized in a total of 2 tubes. CFTR PLUS® NGS SEQUENCING & LIBRARY PREPARATION KIT, contains reaction mix and indexes that allows preparation of Illumina compatible libraries for the simultaneous analysis of 24 patients. Library preparation takes approximately 2 hours.

USAGE AREAS

The accurate and rapid screening of cystic fibrosis disease is of paramount importance in the diagnosis of this extremely common disease. Individuals with cystic fibrosis may have complaints related to the respiratory, gastrointestinal, and reproductive systems. In these cases, it is crucial that awareness of cystic fibrosis is increased and the situation clarified by a genetic test.

TECHNICAL SPECIFICATIONS

The BRCA1 and BRCA2 genes are the most important tumor suppressor genes. The mutations occurring in these genes lead to familial cancer susceptibility patterns. This pattern inherited as autosomal dominant does not only predispose a person to breast cancer. BRCA1 and BRCA2-related hereditary breast and ovarian cancer syndromes are associated with increased risk for most commonly female and male breast cancer, ovarian cancer, and more rarely prostate cancer, pancreatic cancer, and malignant melanoma-like malignancies. In these genes, mutation-bearing cases carry a lifetime risk of malignancy of up to 80%. Its morbidity and mortality can be reduced through the preventive measures that can be taken after genetic diagnosis.

To date, more than 4,000 mutations have been identified in the BRCA1 and BRCA2 genes. These genes, which are somewhat difficult to analyze with the Sanger sequence analysis method, have become more workable with the use of next generation sequence analysis technology. Nevertheless, due to their size, investigating mutations in these genes is a significant problem.

BRCA PLUS ® NGS SEQUENCING & LIBRARY PREPARATION KIT is a next generation sequence analysis library preparation kit developed to investigate mutations in the BRCA1 and BRCA2 genes in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons and exon-intron resultants of the BRCA1 and BRCA2 genes for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in a total of 6 tubes. BRCA PLUS NGS SEQUENCING & LIBRARY PREPARATION KIT contains reaction mix and indexes that allows preparation of Illumina compatible libraries for the simultaneous analysis of 24 patients. Library preparation takes approximately 2 hours.

USAGE AREAS

BRCA PLUS® NGS SEQUENCING & LIBRARY PREPARATION KIT is used for the fast, low-cost and reliable diagnosis of hereditary breast-ovarian cancer syndrome (HBOC). Approximately 10% of all breast cancer cases are hereditary breast cancer. Mutations in BRCA1-BRCA2 genes need to be investigated, especially in breast cancer cases observed in women under 50 years of age and triple (-) breast cancer cases observed in those under 60 years of age.

TECHNICAL SPECIFICATIONS

Mitochondrial DNA is a circular DNA species that must be investigated separately from genomic DNA. Molecular genetic analysis of mitochondrial DNA is a challenging process because of the complex structure of the diseases that it causes, as well as the heterogeneity of the inheritance pattern and the length of the mitochondrial DNA.

FAST-mtDNA® NGS SEQUENCING KIT is a NGS-based kit that allows mutations on mitochondrial DNA to be detected. The kit allows the analysis of the complete mtDNA at once and in a rapid and straightforward manner, thanks to its simple design.

USAGE AREAS

Mitochondrial diseases constitute a significant component of genetic diseases. The mutations in this special DNA, that is included in the mitochondria, the most important organelle in the energy metabolism of the cell, give rise to mitochondrial diseases such as Leber´s Hereditary Optic Atrophy (LHON), Kearn Sayre Syndrome (CNS), Leigh Syndrome, NARP Syndrome, MELAS and MERRF.

FAST-mtDNA® NGS SEQUENCING KIT provides fast and reliable diagnosis of these diseases.

TECHNICAL SPECIFICATIONS

Cystic fibrosis is an autosomal recessive disease that occurs in one in every 2,500 live births in many communities. The mutations in the gene that codes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which acts as a chlorine channel, are responsible for this disease. The epithelial cells in the intestines and respiratory system, pancreatic cells and sweat glands are directly affected by this disease. The increased mucus production accompanying the reduced mucociliary activity results in obstructive pulmonary disease and bacterial infections, which lead to death due to respiratory failure, are the main cause of mortality in patients with cystic fibrosis. Pancreatic failure may also be observed in patients due to the inability to release sufficient digestive enzymes. 97-98% of men with cystic fibrosis also suffer from azoospermia due to the absence of bilateral congenital vas deferens (CBAVD). In addition, fertility problems may occur in female patients due to impaired cervical mucus quality. To date, approximately 1,800 mutations have been identified in the CFTR gene. The size of the CFTR gene (27 coding exons) renders the molecular diagnosis of the disease difficult.

FAST-CFTR® NGS SEQUENCING KIT is a next generation sequence analysis based kit developed to investigate mutations that occur on the CFTR gene in the DNA molecules isolated from blood or tissue. Enrichment of the CFTR gene by a single PCR process in a total of 3 tubes and a single conduit allows rapid and low-cost screening of the cystic fibrosis disease by a next generation sequence analysis method.

USAGE AREAS

The accurate and rapid screening of cystic fibrosis disease is of paramount importance in the diagnosis of this extremely common disease. Individuals with cystic fibrosis may have complaints related to the respiratory, gastrointestinal, and reproductive systems. In these cases, it is crucial that awareness of cystic fibrosis is increased and the situation clarified by a genetic test.

TECHNICAL SPECIFICATIONS

The BRCA1 and BRCA2 genes are the most important tumor suppressor genes. The mutations occurring in these genes lead to familial cancer susceptibility patterns. This pattern inherited as autosomal dominant does not only predispose a person to breast cancer. BRCA1 and BRCA2-related hereditary breast and ovarian cancer syndromes are associated with increased risk for most commonly female and male breast cancer, ovarian cancer, and more rarely prostate cancer, pancreatic cancer, and malignant melanoma-like malignancies. In these genes, mutation-bearing cases carry a lifetime risk of malignancy of up to 80%. Its morbidity and mortality can be reduced through the preventive measures that can be taken after genetic diagnosis.

To date, more than 4,000 mutations have been identified in the BRCA1 and BRCA2 genes. These genes, which are somewhat difficult to analyse with the Sanger sequence analysis method, have become more workable with the use of next generation sequence analysis technology. Nevertheless, due to their size, investigating mutations in these genes is a significant problem.

FAST-BRCA® NGS SEQUENCING KIT is a next generation sequence analysis based kit developed to investigate mutations in the BRCA1 and BRCA2 genes in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons and exon-intron resultants of the BRCA1 and BRCA2 genes for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a PCR reaction that is realized in a total of 6 tubes.

USAGE AREAS

FAST-BRCA® NGS SEQUENCING KIT is used for the fast, low-cost and reliable diagnosis of hereditary breast-ovarian cancer syndrome (HBOC). Approximately 10% of all breast cancer cases are hereditary breast cancer. Mutations in BRCA1-BRCA2 genes need to be investigated, especially in breast cancer cases observed in women under 50 years of age and triple (-) breast cancer cases observed in those under 60 years of age.

TECHNICAL SPECIFICATIONS

Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disease characterized by recurrent attacks of fever and pain. The disease follows a course with fever accompanied with peritonitis, pleuritis and arthritis. Typically, attacks accompanied by fever and serositis continue for 1 to 4 days with spontaneous healing being observed. Renal failure due to amyloidosis is the most serious complication of the disease. The disease is very common, especially in Turkish, Armenian, Arab and Jewish communities, as well as the Ashkenazi. In these communities, the incidence of the disease may increase to as much as one in 200 with a carrier frequency of one in five.

The disease is caused by mutations in the MEFV gene. The MEFV encodes the ´pyrin´ protein. The MEFV encodes the broad ´pyrin´ protein. The gene mainly manifests itself in granulocytes and is responsible for bringing inflammation under control. To date, up to 180 mutations have been identified in the MEFV gene.

FAST-FMF® NGS SEQUENCING KIT is a next generation sequence analysis based kit developed to investigate mutations occurring in the MEFV gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all coding exons and exon-intron resultants of the MEFV gene for the next generation sequence analysis method, achieves this with a single PCR condition and a PCR reaction that is realized in a total of 2 tubes.

USAGE AREAS

FAST-FMF® NGS SEQUENCING KIT is used for the rapid, low-cost and reliable diagnosis of Familial Mediterranean Fever (FMF) by a next generation sequence analysis method. FMF is not only one of the most commonly occurring genetic diseases in our society, but it is also a very important disease in differential diagnosis of acute abdominal pain. It is imperative that patients with recurrent fever and attacks of pain be investigated.

TECHNICAL SPECIFICATIONS

In the countries within the Mediterranean region, where our country is also located, β-thalassemia major disease, in which the β-globin chain is produced less or not at all, is often observed. β-thalassemia is one of the most common single gene diseases and is an important public health problem. Mutations in the β-globin (HBB) gene are responsible for this disease and the disease is inherited as autosomal recessive. β-thalassemia major occurs in those who carry the mutations as homozygote or combined heterozygote.

β -thalassemia is a form of hemolytic anemia characterized by major growth retardation, deterioration in almost all organ functions, increased iron absorption, and iron loading due to recurrent blood transfusions. β -thalassemia minor (β-thalassemia carrier) refers to the carrier state resulting from the presence of one mutation in the gene. Carriers often do not show clinical symptoms and are noticed during routine blood counts. The β-thalassemia carrier rate may be as high as 10% in some regions in our country.

The disease is caused by mutations in the HBB gene. To date, more than 800 mutations have been identified in the HBB gene.

FAST-HBB® NGS SEQUENCING KIT is a next generation sequence analysis based kit developed to investigate mutations occurring in the HBB gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all exons and introns, 5 ´and 3´ UTR regions of the HBB gene for the next generation sequence analysis method, achieves this with a single PCR reaction that is realized in a single tube.

USAGE AREAS

FAST-HBB® NGS SEQUENCING KIT was developed for the complete screening of both structural hemoglobin variants and thalassemic variants. Sickle cell anemia can also be diagnosed. The establishment of a genetic disorder in hemoglobinopathy carriers is extremely important in confirming the diagnosis, genetic counseling, indications for prenatal diagnosis, monitoring and treatment.

TECHNICAL SPECIFICATIONS

Hemophilia A is a rare hereditary hemorrhage disorder characterized by X-linked recessive inheritance that develops as deficiency of Factor VIII and is manifested by intraarticular (hemarthrosis) and intramuscular (hematoma) hemorrhages. Hemophilia A occurs one in approximately 5,000-10,000 male births. The severity of the disease is higher among the youngest patients and the clinical symptoms are experienced more severely. The disease is mostly transmitted to male children from carrier women. About one-third of cases may occur with spontaneous de-novo mutations without a family history.

The severity of hemorrhage findings is directly related to the degree of deficiency of factor VIII. Patients with factor activity (1% exhibit "severe hemophilia" clinical symptoms, while those with 1-5% exhibit "moderate hemophilia" clinical symptoms, and those with) 5% exhibit "mild hemophilia" clinical symptoms.

The molecular changes in the F8 gene, which are responsible for hemophilia A, can be divided into 3 groups:

1. Large gene rearrangements

2. Intragenic deletions or insertions

3. Single nucleotide changes

Around 5,000 variants have been reported in the Hemophilia A mutation databases. Because of the molecular pathologies in all these classes, the disease may take a severe form. However, the inversion including the F8 intron 22 has been found to be responsible for about 40-50% of severe hemophilia A cases. The most common mutation mechanism, independent of the degree of severity, may be determined as single base changes for hemophilia A.

HEMOPHILIA A® GENOTYPING KIT is a kit developed to investigate mutations occurring in the F8 gene in DNA molecules isolated from the blood or tissue, which can perform both targeted mutation screening and conduct screening in the entire genome with next generation sequence analysis. With this kit, the "intron 22 inversion" mutation, which is the most frequent genetic change that may be responsible for the disease, can be detected in the F8 gene, while coding exons and exon-intron resultants of the F8 gene can be investigated through next generation sequence analysis method. There is a protocol required for the enzyme cut, ligation with enzymes and multiplex PCR in the part "Part A" of this kit, which is designed for the molecular diagnosis algorithm of hemophilia A disease. The "Part B" section of the kit contains materials necessary for next generation sequence analysis. This part of the kit, which was developed to enrich all targeted gene regions for next generation sequence analysis, achieves this with a single PCR condition and a PCR reaction carried out in a total of four tubes.

USAGE AREAS

HEMOPHILIA A® GENOTYPING KIT aims to identify the "intron 22 inversion" mutation in two sections in accordance with the diagnostic algorithm of the hemophilia A. It is also used to investigate the other regions of the gene rapidly, cheaply and reliably through a next generation sequence analysis method if this common mutation cannot be detected. With this kit, the Hemophilia A can be detected molecularly in 85-95% of all cases.

TECHNICAL SPECIFICATIONS

PART A

PART B

Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant disease characterized by susceptibility to diffuse gastric cancer, which is a poorly differentiated adenocarcinoma that infiltrates in the form of increased gastric wall thickness without forming a significant mass. The average age of cancer development in the HDGC is 38 years and it occurs in individuals between 14-69 years of age. Mutations in the CDH1 gene are responsible for this susceptibility syndrome, and the cases among women who were diagnosed with mutations in this gene have a 39-52% risk of contracting lobular breast cancer, apart from the HDGC.

To date, the only gene identified to be responsible for the HDGK cases is CDH1, and mutation can be detected in this gene in about 50% of the cases. The pathogenic variant can be detected in more than 90% of the cases in which the mutation is detected, by sequence analysis in coding regions of the gene.

FAST-CDH1® NGS SEQUENCING KIT is the NGS based kit developed to investigate mutations occurring in the CDH1 gene within DNA molecules isolated from blood or tissue. This kit, which is developed for sequencing all exonic regions of the CDH1 gene by the NGS method, achieves this with a single PCR reaction performed in a single tube.

USAGE AREAS

TECHNICAL SPECIFICATIONS

Familial adenomatous polyposis (FAP) is a colon cancer predisposition syndrome characterized by the development of thousands of adenomatous colonic polyps beginning at an average age of 16 years (7-36 years). Untreated patients develop colon cancer at an average age of 39 years (34-43 years).

A definite diagnosis of the FAP cases, which are clinically diagnosed with characteristic symptoms and findings, can be established by determining the heterozygous pathogenic variant in the APC gene.

The mutations in the APC gene are also responsible for the "atenue FAP" and "GAPPS: Gastric Adenocarcinoma and Proximal Polyposis of the Stomach" clinical manifestations, other than the FAP.

In the genetic diagnosis of the FAP disease, a responsible mutation can be detected in about 90% of the cases by sequence analysis of the coding regions of the APC gene.

FAST-APC® NGS SEQUENCING KIT is the NGS based kit developed to investigate mutations occurring in the APC gene in DNA molecules isolated from blood or tissue. This kit, which is developed to sequence all exonic regions of the APC gene by the NGS method, achieves this with a single PCR reaction performed in 2 tubes.

USAGE AREAS

TECHNICAL SPECIFICATIONS

Li-Fraumeni syndrome (LFS) is a cancer susceptibility syndrome associated with an increased risk of developing soft tissue sarcoma, osteosarcoma, premenopausal breast cancer, brain tumours, adrenocortical carcinoma and leukemia. LFS related cancers often occur in childhood or young adulthood. Survivors of these cancers are at risk of contracting other cancers with advancing age.

Mutations in the TP53 gene can be identified in more than 70% of cases diagnosed with the clinical LFS according to clinical criteria and any history of cancer in the family. To date, no other gene has been identified that causes this syndrome. More than 95% of the responsible variants in this gene can be detected by sequence analysis of the coding regions of the TP53 gene.

FAST-TP53® SEQUENCING KIT is the NGS based kit developed to investigate mutations occurring in the TP53 gene in DNA molecules isolated from the blood or tissue. This kit, which was developed to sequence all exonic regions of the TP53 gene by the NGS method, achieves this with a single PCR reaction performed in 2 tubes.

USAGE AREAS

TECHNICAL SPECIFICATIONS

Wilson´s disease is an autosomal recessive inherited copper metabolism disorder characterized by impaired liver function or neurological or psychiatric disorders. Recurrent jaundice, an acute hepatitis like manifestation, autoimmune hepatitis, fulminant hepatic failure or chronic liver disease may occur due to the damage occurring in liver. Neurological expressions of Wilson´s disease include movement disorders such as tremors, chorea, choreatetosis, mask face or rigidity. Again, depression, neurotic behaviour, personality disorders and often intellectual disability can occur in these patients. Inappropriate copper accumulation in many tissues and organs of the body is the reason for this clinical situation.

Biallelic mutations in the ATP7B gene in the cases that are thought to be Wilson´s disease with clinical findings are the molecular cause of the disease. Sequence analysis of all coding regions of the ATP7B gene is recommended for confirmation of diagnosis. More than 800 different mutations have been identified in this gene to date.

Wilson Syndrome® NGS SEQUENCING KIT is the NGS based kit developed to investigate mutations occurring in the ATP7B gene in DNA molecules isolated from blood or tissue. This kit, which was developed to sequence all the exonic regions of the ATP7B gene by the NGS method, achieves this with a single PCR reaction performed in 2 tubes.

USAGE AREAS

TECHNICAL SPECIFICATIONS

Obesity is now the most important public health problem in the world, causing significant problems both in the individual and social sense. While environmental effects and multifactorial inheritance are responsible for most cases of obesity, multiple forms of monogenic obesity have been reported. In the majority of the monogenic obesity cases, molecular defects are detected in genes in the leptin-melanocortin signalling pathways. Biallelic mutations in the LEP, LEPR, PCSK1, and POMC genes, monoallelic mutations in the BDNF, MC4R, SIM1, and NTRK2 genes cause monogenic obesity.

Monogenic Obesity® NGS SEQUENCING KIT is the NGS based kit developed to investigate the mutations known to cause monogenic obesity and which occur in 4 genes [LEP, LEPR, POMC and MC4R], in DNA molecules isolated from blood or tissue. This kit, which was developed to sequence all the exonic regions of the genes analysed in the Kit by the NGS method, achieves this with a single PCR reaction performed in 2 tubes.

USAGE AREAS

TECHNICAL SPECIFICATIONS

Hereditary multiple osteochondromas (Hereditary multiple exocytosis) is a condition characterized by which people develop multiple osteocartilogen mass (exocytosis) at the end of long bones. Symptoms may also occur in flat bones such as pelvic bone and scapula. Number and distribution of exocytosis shows huge variations in patients. Even though the exocytosis are present in the childhood, most of the patients were diagnosed when they reach the adolescence. Some of the patients have the risk of developing sarcoma by transforming osteochondromes into malignancy.

About 480 mutations in the EXT1 gene have been identified in people with hereditary multiple osteochondromas type 1. The loss of functional exostosin-1 gene prevents exostosin-1 protein from forming a complex with the exostosin-2 protein and adding heparan sulfate to proteins. About 220 mutations in the EXT2 gene have been identified in people with hereditary multiple osteochondromas type 2. These loss of function mutations prevents exostosin-2 protein from forming a complex with the exostosin-1 protein and modifying heparan sulfate. It is unclear how this impairment leads to the development of multiple osteochondromas.

FAST-EXT1/EXT2® NGS Sequencing Kit is a next generation sequence analysis library preparation kit developed to investigate mutations in the EXT1/EXT2 genes in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons of EXT1/EXT2 genes for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in two tubes.

USAGE AREAS

FAST-EXT1/EXT2® NGS Sequencing Kit is used for the fast, low-cost and reliable diagnosis of Hereditary multiple osteochondroma. Accurate determination of the etiology in a patient with Hereditary multiple osteochondroma is critical for appropriate treatment selection and proper monitoring. In addition, the identification of the mutation in the EXT1/EXT2 genes will allow the patient and his family to receive a comprehensive and optimal genetic counselling and will also allow the consideration of options such as prenatal diagnosis and / or preimplantation genetic diagnosis.

TECHNICAL SPECIFICATIONS

Factor VII deficiency is a rare bleeding disorder. This disorder commonly causes nosebleeds, easy bruising, bleeding of the gums, and prolonged or excessive bleeding following surgery or physical injury. In severe cases, life-threatening episodes of bleeding inside the skull or gastrointestinal tract can occur. Some affected individuals have no bleeding problems.

The F7 gene provides instructions for making coagulation factor VII protein. Coagulation factors are a group of related proteins that are involved in the coagulation system, which is a series of chemical reactions that form blood clots. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair.

Coagulation factor VII is made primarily by cells in the liver and is inactive form in the blood vessels. When an injury damages blood vessels coagulation system is activated. Activated coagulation factor VII helps turn on other coagulation factors in turn. These processes ultimately promote the conversion of a coagulation protein called fibrinogen into fibrin, which is the material that forms blood clots. Mutations in F7 gene reduce the amount of coagulation factor VII in the bloodstream and the shortage of coagulation factor VII prevents blood from clotting normally. Severe episodes of abnormal bleeding can be observed.

FAST-F7® NGS Sequencing Kit is a next generation sequence analysis library preparation kit developed to investigate mutations in the F7 gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons F7 gene for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in only one tube.

USAGE AREAS

Fast-F7® NGS Sequencing Kit is used for the fast, low-cost and reliable diagnosis of Factor VII deficiency. Accurate determination of the etiology in a patient with Factor VII deficiency is critical for appropriate treatment selection and proper monitoring. In addition, the identification of the mutation in the F7 gene will allow the patient and his family to receive a comprehensive and optimal genetic counselling and will also allow the consideration of options such as prenatal diagnosis and / or preimplantation genetic diagnosis. TECHNICAL SPECIFICATIONS

Pompe disease is an inherited disorder caused by the buildup of glycogen in the body´s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Three types of Pompe disease has been described, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset. Classic infantile-onset form of Pompe disease leads to death from heart failure in the first year of life if. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.

Mutations in the GAA gene are responsible for Pompe disease. The GAA gene provides instructions for production of called acid alpha-glucosidase enzyme. This enzyme is active in lysosomes, and lysosomes use digestive enzymes to break down complex molecules into simpler ones that can be used by cells. Acid alpha-glucosidase normally breaks down a complex sugar called glycogen into a simpler sugar called glucose. Glucose is the main energy source for most cells. Mutations in the GAA gene result in toxic levels of glycogen in lysososomes. Glycogen accumulation damages organs and tissues and causes progressive symptoms of Pompe disease.

FAST-GAA® NGS Sequencing Kit is a next generation sequence analysis library preparation kit developed to investigate mutations in the GAA gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons GAA gene for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in only one tube.

USAGE AREAS

FAST-GAA NGS® Sequencing Kit is used for the fast, low-cost and reliable diagnosis of Pompe disease. Accurate determination of the etiology in a patient with Pompe disease is critical for appropriate treatment selection and proper monitoring. In addition, the identification of the mutations in the GAA gene will allow the patient and his family to receive a comprehensive and optimal genetic counselling and will also allow the consideration of options such as prenatal diagnosis and / or preimplantation genetic diagnosis. TECHNICAL SPECIFICATIONS

Gaucher Disease is a lipid storage disorder which could occur in every age. The disease affect many parts of the body and more than 380 mutations in the GBA gene have been identified in patients with Gaucher Disease. Affected individuals can have enlargement of the liver and spleen, blood cell abnormalities, and rarely, severe neurological problems. Most of the GBA gene mutations responsible for Gaucher Disease change amino acids in beta-glucocerebrosidase, altering the structure of the enzyme and preventing it from working normally. Other mutations in the GBA gene or lead to the production of an abnormally short, nonfunctional version of the enzyme.

Primary reason of Gaucher Disease lack of this enzyme which ejects some lipids out of the cells. Harmful substances can build up in the spleen, liver, bone marrow, lungs and brain. The abnormal accumulation and storage of these substances damages tissues and organs, causing the characteristic features of Gaucher Disease such as enlargement of organs and pain in the bones. Specific treatment is not available and mostly supportive treatment is applied.

FAST-GBA® NGS Sequencing Kit is a next generation sequence analysis library preparation kit developed to investigate mutations in the GBA gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons GBA gene for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in only one tube.

USAGE AREAS

FAST-GBA® NGS Sequencing Kit is used for the fast, low-cost and reliable diagnosis of Gaucher Disease. Accurate determination of the etiology in a patient with Gaucher Disease is critical for appropriate treatment selection and proper monitoring. In addition, the identification of the mutation in the GBA gene will allow the patient and his family to receive a comprehensive and optimal genetic counselling and will also allow the consideration of options such as prenatal diagnosis and / or preimplantation genetic diagnosis. TECHNICAL SPECIFICATIONS

Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body´s tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. Early symptoms of hereditary hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.

Hereditary hemochromatosis is classified in four different types. Type 1, the most common form of the disorder, and type 4 (ferroportin disease) begin in adulthood. For men, symptoms develop between the ages of 40 and 60, and women usually develop symptoms after menopause. Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may appear in childhood. If the disorder is untreated, heart disease becomes evident by age 30. The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2.

The HFE gene provides instructions for producing HFE protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body. When the proteins involved in iron sensing and absorption are functioning properly, iron absorption is tightly regulated.

FAST-HFE® NGS Sequencing Kit is a next generation sequence analysis library preparation kit developed to investigate mutations in the HFE gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich all the coding exons HFE gene for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in only one tube.

USAGE AREAS

FAST-HFE® NGS Sequencing Kit is used for the fast, low-cost and reliable diagnosis of Hereditary hemochromatosis. Accurate determination of the etiology in a patient with Hereditary hemochromatosis is critical for appropriate treatment selection and proper monitoring. In addition, the identification of the mutation in the HFE gene will allow the patient and his family to receive a comprehensive and optimal genetic counselling and will also allow the consideration of options such as prenatal diagnosis and / or preimplantation genetic diagnosis. TECHNICAL SPECIFICATIONS